Gene therapy restores hearing in deaf mice

Nominate a peer for the Pediatric Innovator awards

Do you know someone who has made extraordinary and sustained leadership contributions throughout their career to improve pediatric health care? Or, an innovator who solves problems in new ways to benefit patients? Recognize your peer today.

At the Boston Children’s Hospital Cardiovascular Research Center, researchers were able to effectively reverse the phenotype for cardiomyopathy by intervening early in the genetic coding process for the disease.

So, what’s your digital phenotype?

Detecting Ebola within minutes: A treatment and containment game changer

Tests for detecting Ebola in the blood can take anywhere from 12 hours to four days to yield results. But a recent study published in The Lancet reveals a new test can accurately determine results in mere minutes.

Targeting inflammation in sickle cell disease with fatty acids

Treating chronic pain: From humans to mice and back

Non-narcotic treatments for chronic pain that work well in people, not just mice, are sorely needed. Drawing from human pain genetics, an international team demonstrates a way to break the cycle of pain hypersensitivity without the development of addiction, tolerance or side effects.

Fruit flies’ love lives could clarify brain cells’ role in motivation

Observing mating behavior in male fruit flies is an easy way to observe motivation. Moreover, the brain circuitry behind fly mating has already been characterized, thanks to the creature’s very small brain.

How our neutrophils might sabotage wound healing in diabetes

According to research by Denisa Wagner, PhD, of Boston Children’s Hospital’s Program in Cellular and Molecular Medicine, a poorly understood feature of our immune system’s neutrophils may be one more ingredient in the storm.

Early adversity and the brain: Bangladeshi children may provide lessons

While traditional global health programs have focused on curbing infectious disease, low-resource settings like Dhaka are also coming to be seen as “living laboratories” for investigating how adversity affects children’s brain development.

The diagnostic odyssey: Parents shed light on their experience

Ten mothers of children with neuromuscular disorders were interviewed about their diagnostic odyssey. The results highlight the distress that can be caused by even minor medical procedures and the benefits to the family of obtaining a diagnosis.

Souped-up fish facility boosts drug discovery and testing

The care and feeding of more than 250,000 zebrafish just got better, thanks to a $4 million grant from the Massachusetts Life Sciences Center to upgrade Boston Children’s Hospital’s Karp Aquatics Facility. Aside from the fish, patients with cancer, blood diseases and more stand to benefit.

Targeting leukemia with a clinical trial of CAR T-cell therapy

Research on cancer immunotherapy—treatments that spur an immune response against cancer cells—has boomed in recent years. And one of the more recent methods—called chimeric antigen receptor (CAR) T-cell therapy—is now in a clinical trial.

Sounding out intracranial pressure with a hearing test

Looking beyond allergies:Does IgE keep a wary eye out for cancer?

Edda Fiebiger, PhD, has been studying IgE and allergies for years, and has noticed a curious association in several epidemiologic studies: people with high levels of IgE in their blood (as in people with allergies) have a lower risk of certain cancers.

Pediatric innovators showcase highlights inventions

Some great inventions were on view at the second annual Boston Children’s Hospital Innovators Showcase. Hosted by the hospital’s Innovation Acceleration Program and Technology & Innovation Development Office, the event featured everything from virtual reality goggles with gesture control to biomedical technologies.

BabySee: Mobile app lets you see through an infant’s eyes

DNA sequencing in newborns: Where do we go from here?

Can sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides? What results are appropriate to report back to parents? What are the potential risks and harms? How should DNA sequencing information be integrated into patient care?

A biomarker for Rett syndrome: Measuring hand movements

Children with Rett syndrome display distinctive hand movements or stereotypies, including hand wringing, clasping and other repetitive hand movements. With help from a grant from Boston Children’s Hospital’s Innovation Acceleration Program, researchers are transforming these hand movements into an assessment tool.

New Human Neuron Core to analyze ‘disease in a dish’

Boston Children’s Hospital received nearly $2.2 million from the Massachusetts Life Sciences Center (MLSC) to create a Human Neuron Core. The facility will allow researchers at Boston Children’s and beyond to study neurodevelopmental, psychiatric and neurological disorders directly in living, functioning neurons made from patients with these disorders.

The emerging genetic mosaic of lymphatic and vascular malformations

Our genes can mutate at any point in our lives. In rare cases, a mutation randomly occurs in a single cell of an embryo and gets carried forward only in the descendants of that particular cell, leaving its mark in some tissues, but not in others. This pattern of mutation, called somatic mosaicsm, can have complicated consequences down the road.

A simpler way to measure complex biochemical interactions

Life teems with interactions. Proteins bind. Bonds form between atoms, and break. Enzymes cut. Drugs attach to cell receptors. DNA hybridizes. Those interactions make the processes of life work, and capturing them has led to many medical advances.

Can rare disease genes be protective?

Evolution is a strange thing: sometimes it favors keeping a mutation in the gene pool, even when a double dose of it is harmful—even fatal. Why? Because a single copy of that mutation is protective in certain situations.

Pitching pediatric innovation at SXSW Interactive

A major theme at Taking on Tomorrow 2014 was the difficulty in making the business case for innovation in pediatrics, since the market size is small relative to the adult market. Muna AbdulRaqqaq Tahlak, MD, CEO of Latifa Hospital in Dubai, was among many who urged innovators to collaborate and aggregate their data to make the most impact.

Featured Researchers + Innovators

John Brownstein, PhD
Boston Children’s Hospital’s new chief innovation officer is an epidemiologist by training and a founding father of the growing field of digital epidemiology—the use of digital data from a variety of sources to detect and track disease and promote health.

Bruce Zetter, PhD
Though he has had a lifelong passion for science, he once toyed with an acting career. But he stuck with science and pursued a career in academic medicine. Countless patients, students, business partners and mentees have benefitted.

Michael J. Docktor, MD,
Boston Children’s Hospital’s clinical director of Innovation and director of Clinical Mobile Solutions, is also a practicing gastroenterologist, a proud father of two and a passionate mobile-and-digital health trailblazer.

Gena Koufos, RN, MS, MBA, is program manager in Boston Children’s Hospital’s Innovation Acceleration Program. Her role entails designing new programs to support innovation acceleration across the institution

Kaifeng Liu, MD, a research fellow at Boston Children’s Hospital, takes his inspiration from ants. Liu has taken this inch-by-inch approach in a radical redesign of the conventional suturing needle: “I started to play with the surgical needle in graduate school in 1986.”

With all of the recent buzz about precision medicine, it’s no wonder that William Pu, MD is gaining recognition for his innovative application of stem cell science and gene therapy to study Barth syndrome, a type of heart disease that severely weakens heart muscle. Pu’s research was recently recognized by the American Heart Association as one of the top ten cardiovascular disease research advances of 2014.

He’s a big thinker focused on harnessing the hyper-small. Daniel Kohane, MD, PhD, is a leading drug delivery and biomaterials researcher, leveraging nanoparticle technology and other new vehicles to make medications safer and more effective.

Featured Research Laboratories

Beggs Laboratory: Current studies are aimed at identification of new nemaline myopathy genes, understanding the basis for the variability observed, and determining how these mutations affect muscle function and lead to weakness.